rs1417364

Homo sapiens
G>A
NRDC : Intron Variant
LOC105378721 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0224 (6715/29908,GnomAD)
A=0303 (8829/29118,TOPMED)
A=0260 (1303/5008,1000G)
A=0093 (359/3854,ALSPAC)
A=0101 (374/3708,TWINSUK)
chr1:51797410 (GRCh38.p7) (1p32.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.51797410G>A
GRCh37.p13 chr 1NC_000001.10:g.52263082G>A
NRDC RefSeqGeneNG_029171.1:g.86528C>T

Gene: NRDC, nardilysin convertase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NRDC transcript variant 2NM_001101662.1:c.N/AIntron Variant
NRDC transcript variant 3NM_001242361.1:c.N/AIntron Variant
NRDC transcript variant 1NM_002525.2:c.N/AIntron Variant
NRDC transcript variant X4XM_005270903.1:c.N/AIntron Variant
NRDC transcript variant X1XM_011541522.1:c.N/AIntron Variant
NRDC transcript variant X3XM_011541523.1:c.N/AIntron Variant
NRDC transcript variant X6XM_011541525.2:c.N/AIntron Variant
NRDC transcript variant X4XM_017001375.1:c.N/AIntron Variant

Gene: LOC105378721, uncharacterized LOC105378721(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378721 transcriptXR_947342.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.390A=0.610
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.855A=0.145
1000GenomesEuropeSub1006G=0.885A=0.115
1000GenomesGlobalStudy-wide5008G=0.740A=0.260
1000GenomesSouth AsianSub978G=0.910A=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.907A=0.093
The Genome Aggregation DatabaseAfricanSub8666G=0.455A=0.545
The Genome Aggregation DatabaseAmericanSub838G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1618G=0.808A=0.192
The Genome Aggregation DatabaseEuropeSub18484G=0.921A=0.078
The Genome Aggregation DatabaseGlobalStudy-wide29908G=0.775A=0.224
The Genome Aggregation DatabaseOtherSub302G=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.696A=0.303
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.899A=0.101
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs14173649.18E-06alcohol dependence21703634

eQTL of rs1417364 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1417364 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr15223447052235198E067-27884
chr15225058252251320E067-11762
chr15225058252251320E068-11762
chr15223414252234236E069-28846
chr15223447052235198E069-27884
chr15225058252251320E069-11762
chr15227188952271970E0698807
chr15223414252234236E071-28846
chr15223447052235198E071-27884
chr15224994552250014E071-13068
chr15225058252251320E071-11762
chr15231083852311008E07147756
chr15225058252251320E072-11762
chr15223447052235198E074-27884
chr15224994552250014E074-13068
chr15225058252251320E074-11762
chr15228432852284416E07421246